| H00488 | |
| H number | H00488 |
| Name | MCAD deficiency; Medium-chain acyl-CoA dehydrogenase deficiency; ACADM deficiency |
| Description | Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an autosomal recessive disorder, caused by mutations in the ACADM gene. It is the most commonly recognized defect of mitochondrial beta-oxidation and is potentially fatal. The clinical manifestations are diverse, but usually they include fasting induced non-ketotic hypoglycemia with lethargy which may develop into coma. |
| Category | Inherited metabolic disorder, Mitochondrial disease |
| Network | nt06020(H00488) beta-Oxidation in mitochondria |
| Gene | ACADM [HSA:34] [KO:K00249] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C52.01 ICD-10: E71.3 MeSH: C536038 OMIM: 201450 |
| Reference | PMID:9158144 AUTHORS Andresen BS, Bross P, Udvari S, Kirk J, Gray G, Kmoch S, Chamoles N, Knudsen I, Winter V, Wilcken B, Yokota I, Hart K, Packman S, Harpey JP, Saudubray JM, Hale DE, Bolund L, Kolvraa S, Gregersen N TITLE The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype? JOURNAL Hum Mol Genet 6:695-707 (1997) DOI:10.1093/hmg/6.5.695 PMID:23574375 AUTHORS Leal J, Ades AE, Wordsworth S, Dezateux C TITLE Regional differences in the frequency of the c.985A>G ACADM mutation: findings from a meta-regression of genotyping and screening studies. JOURNAL Clin Genet 85:253-9 (2014) DOI:10.1111/cge.12157 PMID:15877203 AUTHORS Lee PJ, Harrison EL, Jones MG, Jones S, Leonard JV, Chalmers RA TITLE L-carnitine and exercise tolerance in medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency: a pilot study. JOURNAL J Inherit Metab Dis 28:141-52 (2005) DOI:10.1007/s10545-005-5262-5 |